| 单词 | Lipidosis,Sulfatide |
| 释义 | Lipidosis,Sulfatide《英文msh词典》Lipidosis,Sulfatide [入口词] Lipidosis,Sulfatide [主题词] Leukodystrophy,Metachromatic [英文释义] An autosomal recessive lysosomal storage disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to an accumulation of cerebroside sulfate in the nervous system and other organs. Pathologic features include diffuse demyelination and metachromatically-staining granules within glial cells,macrophages,and free in tissue. Clinical subtypes include late infantile,juvenile,and adult forms. The late infantile form presents at 12-18 months of age with progressive psychomotor retardation,ATAXIA,spasticity,and OPTIC ATROPHY. The juvenile form has onset at 4-12 years and features behavioral alterations and ataxia followed by spasticity,DEMENTIA,and visual loss. The adult form presents in the second decade or later with psychiatric manifestations,gait difficulties,and less often as a peripheral neuropathy. (From Menkes,Textbook of Child Neurology,5th ed,pp192-5) |
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